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Next-Generation Sequencing (NGS) in Precision Oncology

NGS has emerged as the platform of choice for tumor genomic profiling. This technology offers several advantages over traditional methods. With NGS, multiple cancer biomarkers can be assessed simultaneously in a single test to quickly reveal a full molecular profile, all while preserving tissue.

 

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How Next-Generation Sequencing (NGS) Is Advancing Precision Oncology

Historically, cancer treatment followed a one-size-fits-all model, where therapies were selected based on tumor site alone. As our understanding of cancer biology grows, therapy decisions are increasingly based on specific biomarkers and genetic alterations present in an individual’s cancer genome.

NGS has emerged as the platform of choice for tumor genomic profiling. This technology offers several advantages over traditional, iterative methods, which are sample, time, labor, and cost intensive. With NGS, multiple cancer biomarkers can be assessed simultaneously in a single test to quickly reveal a full molecular profile, all while preserving tissue. Clinicians and cancer patients no longer have to wait weeks for results—now targeted, potentially life-saving, first-line therapies can be initiated sooner.

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How does NGS work in precision oncology?

Advancing precision oncology involves matching targeted therapies to an individual’s and their cancer’s specific genomic profile—NGS provides the needed genomic intelligence to facilitate this. Patients can be readily paired to the appropriate targeted therapy or to applicable clinical trials of developing therapies.

 

1) During the initial diagnosis phase, an NGS test is ordered with the specified biomarker panel.


2) A complete molecular profile is delivered within days, allowing clinicians to initiate the most appropriate (targeted) first-line therapy much sooner than with traditional sequential testing, or to match the patient to an appropriate clinical trial.


3) NGS can also inform disease sub-classification and risk stratification and be utilized to enhance disease management in minimal residual disease (MRD) and ongoing monitoring.

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What are the next-generation sequencing methods in precision oncology?

NGS is a highly scalable technology—the spectrum of analysis can extend from a small number of genes to an entire genome, depending upon the goal.

Whole-genome sequencing (WGS) and whole-exome sequencing (WES) identify every DNA base across the genome and exome, respectively. Yielding massive data sets, these methods are ideal for research and discovery efforts.

Whole-transcriptome sequencing identifies coding and noncoding RNA to assess variations and gene expression levels across the entire transcriptome. This method is also better suited for research and discovery efforts.

While the value of WGS and WES has been recognized in studying oncology, these methods are impractical in the clinical arena due to costs, long turn-around time to results (weeks), and the complexities of data storage, analysis, and interpretation.

Targeted sequencing panels profile a small set of genes that are curated for a specific application or disease. Featuring actionable biomarkers, these panels are commonly used in clinical applications as they help inform the diagnosis, treatment, and monitoring of individual patient disease.

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What Are the Potential Benefits of In-house NGS for Precision Oncology?

For clinicians and patients

• Rapid, comprehensive assessments enable first-line, targeted treatments to be initiated sooner.
• Enhanced disease management from diagnosis to risk stratification through minimal residual disease detection and ongoing monitoring.
• Efficient matching of patients to clinical trials, contributing to the advancement of new targeted therapies.

For in-house labs

• Low tissue sample requirements
• Automated analysis and integrated reporting (on the latest platforms)
• Reduced labor and outsourcing costs

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NGS has only just begun to inform the continuum of cancer care. The promise of precision oncology will be realized as more and more community hospital labs adopt in-house NGS and clinicians are empowered to leverage these essential genomic insights for targeted care and better outcomes.

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